| Variant ID | 29451 |
|---|---|
| Entrez Gene ID | 9066 |
| Gene | SYT7 (GeneCards) |
| Location | hg19 11:61295579-61295579
hg38 11:61528107-61528107 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000011.9:g.61295579 C>T (Genome Assembly: hg19) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 929481 |
| Variant occurences in COSMIC | 1(large_intestine)|1(endometrium) |
| EIGEN score | -0.1768 |
| CADD Raw score (version 1.3) | 3.88431 (Deleterious) |
| FATHMM raw prediction score | 0.96887 (Tolerated) |
| SIFT score | 0.294 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | -0.315 (Tolerated) |
| PROVEAN score | -0.99 (Tolerated) |
| MetaSVM score | -0.881 (Tolerated) |
| MetaLR score | 0.14 (Tolerated) |
| MCAP score | 0.035 (Deleterious) |
| FitCons score | 0.644 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.44 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.091 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.999 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 17.543 |
| Deleterious probability by iFish2 | 0.6789 (Deleterious) |
| Deleterious probability by DeFine | 0.9494 (Deleterious) |
| Entrez Gene ID | 9066 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SYT7 (GeneCards) |
| Number of variants in SYT7 in this database | 1 (view all the variants) |
| Full name | synaptotagmin 7 |
| Band | 11q12.2 |
| Other IDs | Vega: OTTHUMG00000168199 OMIM: 604146 HGNC: HGNC:11514 Ensembl: ENSG00000011347 |
| Other names | IPCA7, IPCA-7, SYTVII, PCANAP7, SYT-VII |
| Summary | This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate calcium-dependent regulation of membrane trafficking in synaptic transmission. A similar protein in rodents mediates hormone secretion and lysosome exocytosis. In humans, expression of this gene has been associated with prostate cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011] |
| Individual ID | 28714951.127 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |